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File usage
The following 62 pages use this file:
- 2-Hydroxyglutaric aciduria
- Acute fatty liver of pregnancy
- Adenylosuccinate lyase deficiency
- Antley-Bixler syndrome
- Arginemia
- Argininemia
- Bietti's crystalline dystrophy
- Carbamoyl phosphate synthetase I deficiency
- Carnosinemia
- Carpenter syndrome
- Congenital hepatic fibrosis
- D-Glyceric acidemia
- Diastrophic dysplasia
- EEM syndrome
- Ellis-van Creveld syndrome
- Familial isolated vitamin E deficiency
- Fibrochondrogenesis
- Galactose epimerase deficiency
- Glutathione synthetase deficiency
- Guanidinoacetate methyltransferase deficiency
- Gunther disease
- Hemophagocytic lymphohistiocytosis classification
- Hyperlysinemia
- Hyperprolinemia
- Hypervalinemia
- ICF syndrome
- Ichthyosis lamellaris
- Infantile neuroaxonal dystrophy
- Isobutyryl-coenzyme A dehydrogenase deficiency
- Keutel syndrome
- Lawrence-Moon syndrome
- Leukocyte adhesion deficiency
- Lysinuric protein intolerance
- Malonyl-CoA decarboxylase deficiency
- Maple syrup urine disease
- Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Mitochondrial trifunctional protein deficiency
- Mucopolysaccharidosis
- Nephronophthisis
- Oguchi disease
- Omenn syndrome
- Ornithine translocase deficiency
- Progressive familial intrahepatic cholestasis
- Prolidase deficiency
- Pyruvate carboxylase deficiency
- Recessive multiple epiphyseal dysplasia
- Salla disease
- Sarcosinemia
- Short-chain acyl-coenzyme A dehydrogenase deficiency
- Shwachman-Diamond syndrome pathophysiology
- Situs inversus
- Smith-Lemli-Opitz syndrome
- Spinocerebellar ataxia
- Succinic semialdehyde dehydrogenase deficiency
- Tetrahydrobiopterin deficiency
- Thalassemia pathophysiology
- Triosephosphate isomerase deficiency
- Urocanic aciduria
- Usher syndrome
- Waardenburg syndrome
- Walker-Warburg syndrome
- Woodhouse-Sakati syndrome